Product Details

SNP ID
rs199984441
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:132670624 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAACACGGCCGACCAGGCCCGGG[A/T]GGGGCCCGCGGACGACGGGCCTGCG
Phenotype
MIM: 616533 MIM: 604892
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DDX31 PubMed Links

Gene Details

Gene
DDX31
Gene Name
DEAD-box helicase 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322340.1 590 Intron NP_001309269.1
NM_001322341.1 590 Intron NP_001309270.1
NM_001322342.1 590 Intron NP_001309271.1
NM_001322343.1 590 Intron NP_001309272.1
NM_001322344.1 590 Intron NP_001309273.1
NM_022779.8 590 Intron NP_073616.6
NM_138620.1 590 Intron NP_619526.1
XM_005272207.4 590 Intron XP_005272264.1
XM_006717236.3 590 Intron XP_006717299.1
XM_011518921.2 590 Intron XP_011517223.1
XM_011518922.2 590 Intron XP_011517224.1
Gene
GTF3C4
Gene Name
general transcription factor IIIC subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012204.3 590 Missense Mutation GAG,GTG E9V NP_036336.2
XM_017015317.1 590 Missense Mutation GAG,GTG E9V XP_016870806.1
XM_017015318.1 590 Missense Mutation GAG,GTG E9V XP_016870807.1

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